AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic Test
Short Name: AR Gene SBMA NGS
Also known as: Kennedy's Disease Genetic Test, SBMA AR Gene Test, Androgen Receptor Gene Mutation Analysis
AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the time the sample reaches the laboratory. The exact time may depend on the complexity of the variant and sample quality.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to confirm or exclude a clinical diagnosis of Spinal and Bulbar Muscular Atrophy (SBMA/Kennedy's disease) by detecting CAG repeat expansion or disease-causing mutations in the AR gene. It also aids in identifying carriers, providing reproductive risk information, and enabling early management and genetic counselling for affected individuals and their families.
- Test Code
- 4539
- CPT Code
- 81401
- ICD Code
- G12.21
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the time the sample reaches the laboratory. The exact time may depend on the complexity of the variant and sample quality.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No special preparation is required. The patient should bring their identification, prescription/referral from the physician, and a history of any previous genetic tests. It is recommended to have completed a genetic counselling session before sample collection.
Method: Venipuncture or Heel/Finger prick (FTA card)
Laboratory Analysis
For blood collection, a standard venipuncture will be performed. For FTA card, a drop of blood is obtained via a finger prick. The procedure is quick and causes minimal discomfort.
Report Delivery
No specific precautions are needed after sample collection. The patient may resume normal activities immediately. Results will be shared in 3 to 4 weeks via the selected report delivery method.
Timeline: Results are typically available within 3 to 4 weeks from the time the sample reaches the laboratory. The exact time may depend on the complexity of the variant and sample quality.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm or exclude a clinical diagnosis of Spinal and Bulbar Muscular Atrophy (SBMA/Kennedy's disease) by detecting CAG repeat expansion or disease-causing mutations in the AR gene. It also aids in identifying carriers, providing reproductive risk information, and enabling early management and genetic counselling for affected individuals and their families.
How to Prepare
- Blood to be collected in an EDTA vacutainer (purple top) for whole blood sample.
- For FTA card, spot a minimum of 3 blood circles, air dry for 30 minutes.
- Label the sample tube/card securely with patient name, date of birth, and collection date.
- Ship the sample at ambient temperature in a leak-proof biohazard bag.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic counselling is essential before and after the test to understand inheritance, implications for family members, and management options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample quantity
- Hemolyzed blood sample
- Improperly labeled sample
- Leaking of blood sample container
- Sample received without informed consent form or clinical history
Understanding Your Results
Consult a neurologist or clinical geneticist if you have progressive muscle weakness, bulbar symptoms, or a family history of SBMA. Also, consult if your test result is positive or if you need guidance on carrier/presymptomatic testing.
Limitations
- ⚠NGS technology may not reliably detect very large CAG repeat expansions (e.g., >60 repeats); complementary Southern blot or repeat-primed PCR may be required for confirmation.
- ⚠This test detects mutations in the AR gene only; other genetic causes of motor neuron disease may produce similar clinical symptoms and may necessitate broader panel testing.
- ⚠A negative result does not entirely exclude SBMA if the clinical presentation strongly suggests the disease. In such cases, additional testing or referral to a neuromuscular specialist is recommended.
- ⚠Presymptomatic testing should only be performed in the context of formal genetic counselling to ensure informed consent and psychological support.
Risks & Considerations
- ●No physical risks are associated with blood collection except minor bruising or discomfort.
- ●Psychological impact of knowing a genetic diagnosis, which is why counselling is integral.
- ●Potential implications for insurance and employment if genetic diagnosis is disclosed.
Interfering Factors
- ●Inadequate DNA quantity or quality
- ●Contamination of blood sample with maternal cells if collected improperly
- ●Presence of large CAG repeat expansions that may not be accurately sized by NGS alone
- ●Mosaicism in somatic tissues which can lead to discordant results between blood and other tissues
- ●CAG repeat instability during sample storage or processing
Compare With Similar Tests
| Test | AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic Test | AR Gene Targeted Mutation Analysis | Direct Sanger Sequencing of AR Gene | Repeat-Primed PCR / Southern Blot | Multigene NGS Panel for Motor Neuron Diseases |
|---|---|---|---|---|---|
| Comparison | AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic Test |
Frequently Asked Questions
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